Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.G316Splc

SOHLH1

88 papers

RefSeq Summary

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are...

Pfam Domains

HLHaa 56–104UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

spermatogenesis and oogenesis specific basic helix-loop-helix 1

HGNC Previous Symbol

C9orf157

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001101677.2
p.G316Splc
c.946+212C>T
Surrounding Variants
2 papers
NM_001101677.2
p.G316Splc
c.946+135G>T
1 paper
NM_001101677.2
p.G316Splc
c.947-240G>A
1 paper
NM_001101677.2
p.G316Splc
c.946+35C>T
1 paper
NM_001101677.2
p.G316Splc
c.947-163G>A
1 paper
NM_001101677.2
p.P315L
c.944C>T
1 paper
NM_001101677.2
p.W314L
c.941G>T
7 papers
NM_001101677.2
p.L306M
c.916C>A
2 papers
NM_001101677.2
p.T303M
c.908C>T
1 paper
NM_001101677.2
p.D298_D301del4
c.892_902del12
1 paper
NM_001101677.2
p.D300D
c.900C>T
1 paper
NM_001101677.2
p.G292Splc
c.876-6T>C
1 paper
NM_001101677.2
p.G292Splc
c.876-37C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."